259 research outputs found

    What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

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    Abstract Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in case of recurrent pregnancy loss could be a more efficient way to identify couples at increased risk for carrying a balanced chromosome rearrangement. The aim of this study was to evaluate whether the potential fetal imbalances caused by parental balanced aberrations detected in our center are large enough to be detectable by genome-wide non-invasive prenatal testing (NIPT). Material and methods From January 1970 until May 2020 our laboratory received 30,863 unique requests for karyotyping due to RPL. We have identified 16,045 couples and evaluated all abnormal cytogenetic results to assess the minimal size of the involved chromosomal segments in potential unbalanced products of the rearrangements. Results In the presented cohort we detected 277 aberrant balanced translocations/inversions in females and 185 in males amongst 16,045 couples with RPL, which can be translated to a risk of 1:35 (2.9%, 95% CI 2.6–3.2%). Our study showed that the vast majority (98.7%, 95% CI 97.1–99.5%) of these balanced aberrations will potentially cause a fetal imbalance > 10 Mb, which is detectable with genome-wide NIPT if it was performed during one of the miscarriages. Conclusions Our study suggests that genome-wide NIPT is able to reveal most unbalanced products of balanced chromosomal rearrangements carried by couples with RPL and therefore can potentially identify balanced chromosomal aberration carriers. Moreover, our data suggest that these couples can be offered NIPT in case they decline invasive testing in future pregnancies

    A Multi-disciplinary Commentary on Preclinical Research to investigate Vascular Contributions to Dementia

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    Although dementia research has been dominated by Alzheimer's disease (AD), most dementia in older people is now recognised to be due to mixed pathologies, usually combining vascular and AD brain pathology. Vascular cognitive impairment (VCI), which encompasses vascular dementia (VaD) is the second most common type of dementia. Models of VCI have been delayed by limited understanding of the underlying aetiology and pathogenesis. This review by a multidisciplinary, diverse (in terms of sex, geography and career stage), cross-institute team provides a perspective on limitations to current VCI models and recommendations for improving translation and reproducibility. We discuss reproducibility, clinical features of VCI and corresponding assessments in models, human pathology, bioinformatics approaches, and data sharing. We offer recommendations for future research, particularly focusing on small vessel disease as a main underpinning disorder

    A multi-disciplinary commentary on preclinical research to investigate vascular contributions to dementia

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    Although dementia research has been dominated by Alzheimer's disease (AD), most dementia in older people is now recognised to be due to mixed pathologies, usually combining vascular and AD brain pathology. Vascular cognitive impairment (VCI), which encompasses vascular dementia (VaD) is the second most common type of dementia. Models of VCI have been delayed by limited understanding of the underlying aetiology and pathogenesis. This review by a multidisciplinary, diverse (in terms of sex, geography and career stage), cross-institute team provides a perspective on limitations to current VCI models and recommendations for improving translation and reproducibility. We discuss reproducibility, clinical features of VCI and corresponding assessments in models, human pathology, bioinformatics approaches, and data sharing. We offer recommendations for future research, particularly focusing on small vessel disease as a main underpinning disorder

    Newly diagnosed HIV and use of HIV-PrEP among non-western born MSM attending STI clinics in the Netherlands: a large retrospective cohort study

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    IntroductionThe World Health Organization recommends HIV-PrEP for all people at risk for HIV infection, which includes men who have sex with men (MSM). Substantial part of new HIV diagnoses in the Netherlands are in non-western born MSM. This study evaluated new HIV diagnoses and reported PrEP use among non-western born MSM and compared it to western-born MSM. To inform public health efforts in the context of equitable PrEP access, we further assessed sociodemographic factors related to higher HIV risk and lower PrEP use among non-western born MSM.MethodsSurveillance data of consultations among MSM in all Dutch STI-clinics (2016–2021) were analyzed. STI-clinics provide PrEP via the national pilot-program since August 2019. In non-western born MSM (born in Eastern-Europe/Latin-America/Asia/Africa/Dutch-Antilles/Suriname), sociodemographic factors were evaluated for association with HIV (by multivariable generalized estimating equations) and reported PrEP use in the past 3 months (by multivariable logistic regression; restricted to an at-risk for HIV person-level data-subset from August 2019).ResultsNew HIV infections were diagnosed among 1.1% (493/44,394) of non-western born MSM-consultations (vs. 0.4% among western-born MSM, 742/210,450). Low education (aOR: 2.2, 95%CI: 1.7–2.7, vs. high education) and age under 25 years (aOR: 1.4, 95%CI: 1.1–1.8, vs. age above 35 years) were associated with new HIV diagnoses. PrEP use in the past 3 months was 40.7% in non-western born MSM (1,711/4,207; 34.9% among western-born MSM, 6,089/17,458). PrEP use was lower among non-western born MSM aged under 25 years (aOR: 0.3, 95%CI: 0.2–0.4), living in less urban areas (aOR: 0.7, 95%CI: 0.6–0.8), and having low education level (aOR: 0.6, 95%CI: 0.5–0.7).ConclusionOur study confirmed that non-western born MSM are an important key population in HIV prevention. Access to HIV prevention, including HIV-PrEP, should be further optimized to all non-western born MSM at risk for HIV, and specifically to those who are younger, live in less urban areas, and have a low education level

    Impact of Complications After Pancreatoduodenectomy on Mortality, Organ Failure, Hospital Stay, and Readmission Analysis of a Nationwide Audit:Analysis of a Nationwide Audit

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    OBJECTIVE: To quantify the impact of individual complications on mortality, organ failure, hospital stay, and readmission after pancreatoduodenectomy. SUMMARY OF BACKGROUND DATA: An initial complication may provoke a sequence of adverse events potentially leading to mortality after pancreatoduodenectomy. This study was conducted to aid prioritization of quality improvement initiatives. METHODS: Data from consecutive patients undergoing pancreatoduodenectomy (2014-2017) were extracted from the Dutch Pancreatic Cancer Audit. Population attributable fractions (PAF) were calculated for the association of each complication (ie, postoperative pancreatic fistula, postpancreatectomy hemorrhage, bile leakage, delayed gastric emptying, wound infection, and pneumonia) with each unfavorable outcome [ie, in-hospital mortality, organ failure, prolonged hospital stay (>75th percentile), and unplanned readmission), whereas adjusting for confounders and other complications. The PAF represents the proportion of an outcome that could be prevented if a complication would be eliminated completely. RESULTS: Overall, 2620 patients were analyzed. In-hospital mortality occurred in 95 patients (3.6%), organ failure in 198 patients (7.6%), and readmission in 427 patients (16.2%). Postoperative pancreatic fistula and postpancreatectomy hemorrhage had the greatest independent impact on mortality [PAF 25.7% (95% CI 13.4-37.9) and 32.8% (21.9-43.8), respectively] and organ failure [PAF 21.8% (95% CI 12.9-30.6) and 22.1% (15.0-29.1), respectively]. Delayed gastric emptying had the greatest independent impact on prolonged hospital stay [PAF 27.6% (95% CI 23.5-31.8)]. The impact of individual complications on unplanned readmission was smaller than 11%. CONCLUSION: Interventions focusing on postoperative pancreatic fistula and postpancreatectomy hemorrhage may have the greatest impact on in-hospital mortality and organ failure. To prevent prolonged hospital stay, initiatives should in addition focus on delayed gastric emptying

    Intention to use and acceptability of home-based sexual health care among men who have sex with men who previously attended clinic-based sexual health care

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    The COVID-19 pandemic has temporarily disrupted access to clinic-based sexual health care for men who have sex with men (MSM) in the Netherlands. The importance of home-based sexual health care has been underpinned as an extension of clinic-based care. This paper aims to assess intention to use, and acceptability of home-based sexual health care among MSM who previously attended clinic-based sexual health care. In November 2020, 424 MSM who had attended an STI clinic pre-pandemic were invited to participate in an online survey; 154 MSM completed the survey (response 36%). Intention to use self-sampling STI/HIV tests was assessed (median; scale 0-100) and compared across sociodemographic and sexual behavior characteristics by Kruskal-Wallis H tests. Descriptive analyses provided insights in acceptability of home-based sexual health care. Of participants (median age 47), 60.4% (93/154) tested for STI/HIV in the past 6 months, most of them attended a clinic. The median score on intention to use self-sampling tests was 86.5 (SD = 33.4) and did not differ by sociodemographic or sexual behavioral characteristics (all p-values > 0.1). Participants were positive toward online sexual health counseling (median attitude = 75.0, SD = 29.6) and their main preferred topics were PrEP use and STI/HIV testing. MSM who attended clinic-based care expressed intention to use self-sampling tests and a positive attitude toward online sexual health counseling. Home-based sexual health care elements are not currently integrated within Dutch clinic-based sexual health care and should be considered an addition for continued provision of care and extended reach of MSM

    Impact of Complications after Pancreatoduodenectomy on Mortality, Organ Failure, Hospital Stay, and Readmission Analysis of a Nationwide Audit

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    Objective: To quantify the impact of individual complications on mortality, organ failure, hospital stay, and readmission after pancreatoduodenectomy. Summary of Background Data: An initial complication may provoke a sequence of adverse events potentially leading to mortality after pancreatoduodenectomy. This study was conducted to aid prioritization of quality improvement initiatives. Methods: Data from consecutive patients undergoing pancreatoduodenectomy (2014-2017) were extracted from the Dutch Pancreatic Cancer Audit. Population attributable fractions (PAF) were calculated for the association of each complication (ie, postoperative pancreatic fistula, postpancreatectomy hemorrhage, bile leakage, delayed gastric emptying, wound infection, and pneumonia) with each unfavorable outcome [ie, in-hospital mortality, organ failure, prolonged hospital stay (>75th percentile), and unplanned readmission), whereas adjusting for confounders and other complications. The PAF represents the proportion of an outcome that could be prevented if a complication would be eliminated completely. Results: Overall, 2620 patients were analyzed. In-hospital mortality occurred in 95 patients (3.6%), organ failure in 198 patients (7.6%), and readmission in 427 patients (16.2%). Postoperative pancreatic fistula and postpancreatectomy hemorrhage had the greatest independent impact on mortality [PAF 25.7% (95% CI 13.4-37.9) and 32.8% (21.9-43.8), respectively] and organ failure [PAF 21.8% (95% CI 12.9-30.6) and 22.1% (15.0-29.1), respectively]. Delayed gastric emptying had the greatest independent impact on prolonged hospital stay [PAF 27.6% (95% CI 23.5-31.8)]. The impact of individual complications on unplanned readmission was smaller than 11%. Conclusion: Interventions focusing on postoperative pancreatic fistula and postpancreatectomy hemorrhage may have the greatest impact on in-hospital mortality and organ failure. To prevent prolonged hospital stay, initiatives should in addition focus on delayed gastric emptying

    Impact of Complications after Pancreatoduodenectomy on Mortality, Organ Failure, Hospital Stay, and Readmission Analysis of a Nationwide Audit

    No full text
    Objective: To quantify the impact of individual complications on mortality, organ failure, hospital stay, and readmission after pancreatoduodenectomy. Summary of Background Data: An initial complication may provoke a sequence of adverse events potentially leading to mortality after pancreatoduodenectomy. This study was conducted to aid prioritization of quality improvement initiatives. Methods: Data from consecutive patients undergoing pancreatoduodenectomy (2014-2017) were extracted from the Dutch Pancreatic Cancer Audit. Population attributable fractions (PAF) were calculated for the association of each complication (ie, postoperative pancreatic fistula, postpancreatectomy hemorrhage, bile leakage, delayed gastric emptying, wound infection, and pneumonia) with each unfavorable outcome [ie, in-hospital mortality, organ failure, prolonged hospital stay (>75th percentile), and unplanned readmission), whereas adjusting for confounders and other complications. The PAF represents the proportion of an outcome that could be prevented if a complication would be eliminated completely. Results: Overall, 2620 patients were analyzed. In-hospital mortality occurred in 95 patients (3.6%), organ failure in 198 patients (7.6%), and readmission in 427 patients (16.2%). Postoperative pancreatic fistula and postpancreatectomy hemorrhage had the greatest independent impact on mortality [PAF 25.7% (95% CI 13.4-37.9) and 32.8% (21.9-43.8), respectively] and organ failure [PAF 21.8% (95% CI 12.9-30.6) and 22.1% (15.0-29.1), respectively]. Delayed gastric emptying had the greatest independent impact on prolonged hospital stay [PAF 27.6% (95% CI 23.5-31.8)]. The impact of individual complications on unplanned readmission was smaller than 11%. Conclusion: Interventions focusing on postoperative pancreatic fistula and postpancreatectomy hemorrhage may have the greatest impact on in-hospital mortality and organ failure. To prevent prolonged hospital stay, initiatives should in addition focus on delayed gastric emptying

    Evidence-based PET for thoracic tumours

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    AbstractFluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) is a robust imaging tool that is currently used in daily clinical practice for the evaluation of thoracic malignancies. This chapter provides an overview of the current evidence-based data on the usefulness of PET/CT for the evaluation of patients with thoracic tumours including lung cancer, pleural and thymic tumours, and esophageal cancer
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